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DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388971%3A_____%2F20%3A00537250" target="_blank" >RIV/61388971:_____/20:00537250 - isvavai.cz</a>

  • Alternative codes found

    RIV/68378041:_____/20:00537250 RIV/00023001:_____/20:00080081

  • Result on the web

    <a href="https://www.mdpi.com/1422-0067/21/15/5561" target="_blank" >https://www.mdpi.com/1422-0067/21/15/5561</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3390/ijms21155561" target="_blank" >10.3390/ijms21155561</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

  • Original language description

    The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair genes and various cancers. The mismatch repair system plays a unique role in the control of the genetic integrity and it is often inactivated (germline and somatic mutations and hypermethylation) in cancer patients. Here, we focused on germline variants in mismatch repair genes and found the outcomes rather controversial: some SNPs are sometimes ascribed as protective, while other studies reported their pathological effects. Regarding the complexity of cancer as one disease, we attempted to ascertain if particular polymorphisms exert the effect in the same direction in the development and treatment of different malignancies, although it is still not straightforward to conclude whether polymorphisms always play a clear positive role or a negative one. Most recent and robust genome-wide studies suggest that risk of cancer is modulated by variants in mismatch repair genes, for example in colorectal cancer. Our study shows that rs1800734 inMLH1or rs2303428 inMSH2may influence the development of different malignancies. The lack of functional studies on many DNA mismatch repair SNPs as well as their interactions are not explored yet. Notably, the concerted action of more variants in one individual may be protective or harmful. Further, complex interactions of DNA mismatch repair variations with both the environment and microenvironment in the cancer pathogenesis will deserve further attention.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10606 - Microbiology

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2020

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    International Journal of Molecular Sciences

  • ISSN

    1661-6596

  • e-ISSN

  • Volume of the periodical

    21

  • Issue of the periodical within the volume

    15

  • Country of publishing house

    CH - SWITZERLAND

  • Number of pages

    29

  • Pages from-to

    5561

  • UT code for WoS article

    000567249700001

  • EID of the result in the Scopus database

    2-s2.0-85089122841